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Did you mean stephan u (132 results)?
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
Genome-wide association meta-analyses of drug-resistant epilepsy.
Leu C, Avbersek A, Stevelink R, Custodio HM, Chen S, Speed D, Bennett CA, Jonsson L, Unnsteinsdóttir U, Jorgensen AL, Cavalleri GL, Delanty N, Craig JJ, Depondt C, Johnson MR, Koeleman BPC, Hassanin E, Omidvar ME, Krause R, Lerche H, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Striano P, Zara F, Stefansson H, Stefansson K, May P, Neale BM, Lal D, Berkovic SF; Epi25 Collaborative; EpiPGX Consortium; Sisodiya SM. Leu C, et al. EBioMedicine. 2025 May;115:105675. doi: 10.1016/j.ebiom.2025.105675. Epub 2025 Apr 15. EBioMedicine. 2025. PMID: 40240269 Free PMC article.
Folker Hanefeld, 1937-2022.
Stephani U, Rating D. Stephani U, et al. Eur J Paediatr Neurol. 2022 Jun 24:S1090-3798(22)00099-X. doi: 10.1016/j.ejpn.2022.06.012. Online ahead of print. Eur J Paediatr Neurol. 2022. PMID: 35760709 No abstract available.
Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.
Nabbout R, Mistry A, Zuberi S, Villeneuve N, Gil-Nagel A, Sanchez-Carpintero R, Stephani U, Laux L, Wirrell E, Knupp K, Chiron C, Farfel G, Galer BS, Morrison G, Lock M, Agarwal A, Auvin S; FAiRE, DS Study Group. Nabbout R, et al. Among authors: stephani u. JAMA Neurol. 2020 Mar 1;77(3):300-308. doi: 10.1001/jamaneurol.2019.4113. JAMA Neurol. 2020. PMID: 31790543 Free PMC article. Clinical Trial.
USP25 in genetic generalized epilepsy: a gene under scrutiny.
Erfanian Omidvar M, Murrell JR, Prentice AJ, Helbig I, Lerche H, May P; Epi25 Collaborative. Erfanian Omidvar M, et al. Brain. 2026 Feb 7;149(2):e16-e18. doi: 10.1093/brain/awaf406. Brain. 2026. PMID: 41144622 No abstract available.
284 results